Canonical Allele Identifier: CA1536189

Gene: NBAS

Linked Data

• ClinVar Variation Id: 1054219
• ClinVar RCV Id: RCV001362687 ; RCV002548542
• dbSNP Id: rs142176915
• ExAC: 2:15542324 G / T
• gnomAD v2: 2-15542324-G-T
• gnomAD v3: 2-15402200-G-T
• gnomAD v4: 2-15402200-G-T
• MyVariant Identifiers: chr2:g.15542324G>T (hg19) ; chr2:g.15402200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402200G>T , CM000664.2:g.15402200G>T	GRCh38
NC_000002.11:g.15542324G>T , CM000664.1:g.15542324G>T	GRCh37
NC_000002.10:g.15459775G>T	NCBI36
NG_032964.1:g.164149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1136C>A
ENST00000700062.1:c.1136C>A
ENST00000700065.1:n.3052C>A
ENST00000281513.10:c.3039C>A MANE Select	ENSP00000281513.5:p.Asp1013Glu
ENST00000281513.9:c.3039C>A	ENSP00000281513.5:p.Asp1013Glu
ENST00000429842.1:c.331C>A
ENST00000441755.5:c.180C>A	ENSP00000396501.1:p.Asp60Glu
ENST00000442506.5:c.182C>A
NM_015909.3:c.3039C>A	NP_056993.2:p.Asp1013Glu
NR_052013.2:n.3083C>A
XM_011510357.1:c.2910C>A	XP_011508659.1:p.Asp970Glu
XM_011510358.1:c.3039C>A	XP_011508660.1:p.Asp1013Glu
XM_011510359.1:c.2400C>A	XP_011508661.1:p.Asp800Glu
XM_011510360.1:c.840C>A	XP_011508662.1:p.Asp280Glu
XM_011510361.1:c.831C>A	XP_011508663.1:p.Asp277Glu
XM_011510357.2:c.2910C>A	XP_011508659.1:p.Asp970Glu
XM_011510358.2:c.3039C>A	XP_011508660.1:p.Asp1013Glu
XM_011510360.2:c.840C>A	XP_011508662.1:p.Asp280Glu
XM_011510361.2:c.831C>A	XP_011508663.1:p.Asp277Glu
XM_017004317.1:c.3039C>A	XP_016859806.1:p.Asp1013Glu
XM_024452961.1:c.2400C>A	XP_024308729.1:p.Asp800Glu
NM_015909.4:c.3039C>A MANE Select	NP_056993.2:p.Asp1013Glu
NR_052013.3:n.3069C>A